Results 71 to 80 of about 3,195 (191)
Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of RNA‐binding factors such as the Muscleblind‐like (MBNL)
Caroline Hermitte +11 more
wiley +1 more source
Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys
Aging Cell, Volume 24, Issue 12, December 2025.Here we show shared and depot‐specific adaptations to life‐long CR in subcutaneous and visceral adipose depots from advanced‐age male rhesus monkeys. Transcriptomics reveal differences between the depots, as well as shared and distinct CR‐responsive pathways.
Josef P. Clark +6 more
wiley +1 more source
Нервно-мышечные болезни, 2016 Myotonia congenital (MC) is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1) which change the functional features of muscle fibers membrane.
S. A. Kurbatov +4 more
doaj +1 more source
Becker congenital myotonia in black African with molecular findings
Egyptian Journal of Medical Human Genetics, 2022 Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin +6 more
doaj +1 more source
Inhibition of skeletal muscle CLC-1 chloride channels by low intracellular pH and ATP [PDF]
, 2007 Skeletal muscle acidosis during exercise has long been thought to be a cause of fatigue, but recent studies have shown that acidosis maintains muscle excitability and opposes fatigue by decreasing the sarcolemmal chloride conductance.
Bennetts, B, Cromer, B, Parker, M
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Ion channels
British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +86 more
wiley +1 more source
Structure of the CLC-1 chloride channel from Homo sapiens. [PDF]
, 2018 CLC channels mediate passive Cl- conduction, while CLC transporters mediate active Cl- transport coupled to H+ transport in the opposite direction. The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence.
MacKinnon, Roderick, Park, Eunyong
core +2 more sources
Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti +4 more
wiley +1 more source
Human Mutation, 2015 Mutations in the gene coding for the skeletal muscle Cl(-) channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed with myotonic dystrophy type 1 but who were negative for DM1 mutations.
VindasSmith R +9 more
openaire +5 more sources
Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders [PDF]
, 1998 Loss of chromosome 7 (-7) or deletion of the long arm (7q-) are recurring chromosome abnormalities in myeloid leukemias. The association of - 7/7q- with myeloid leukemia suggests that these regions contain novel tumor suppressor gene(s), whose loss of ...
Brown, J +12 more
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